| - GRCh37:
- Chr16:79632940
- GRCh38:
- Chr16:79599043
| MAF | I287S | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Mar 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633156
- GRCh38:
- Chr16:79599259
| MAF | G215D | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632865
- GRCh38:
- Chr16:79598968
| MAF | Q312R | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633099-79633107
- GRCh38:
- Chr16:79599202-79599210
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633238-79633239
- GRCh38:
- Chr16:79599341-79599342
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633332
- GRCh38:
- Chr16:79599435
| MAF | E156D | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633145
- GRCh38:
- Chr16:79599248
| MAF | G219S | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633536
- GRCh38:
- Chr16:79599639
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633089-79633090
- GRCh38:
- Chr16:79599192-79599193
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633492
- GRCh38:
- Chr16:79599595
| MAF | P103H | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632972
- GRCh38:
- Chr16:79599075
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632934
- GRCh38:
- Chr16:79599037
| MAF | L289Q | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632898
- GRCh38:
- Chr16:79599001
| MAF | Y301C | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633089-79633090
- GRCh38:
- Chr16:79599192-79599193
| MAF | | not provided, Ayme-Gripp syndrome, Cataract 21 multiple types
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:79633206
- GRCh38:
- Chr16:79599309
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome, not provided
| Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633159
- GRCh38:
- Chr16:79599262
| MAF | G214A | Cataract 21 multiple types, Ayme-Gripp syndrome | Benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633088
- GRCh38:
- Chr16:79599191
| MAF | G238C | Ayme-Gripp syndrome | Uncertain significance
(Jul 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632878
- GRCh38:
- Chr16:79598981
| MAF | K308E | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632816
- GRCh38:
- Chr16:79598919
| MAF | D328E | Ayme-Gripp syndrome | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633388
- GRCh38:
- Chr16:79599491
| MAF | L138M | Cataract 21 multiple types, Ayme-Gripp syndrome, Cataract 21 multiple types
| Conflicting interpretations of pathogenicity
(Aug 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:79633313
- GRCh38:
- Chr16:79599416
| MAF | V163L | Ayme-Gripp syndrome | Uncertain significance
(May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632990
- GRCh38:
- Chr16:79599093
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632861
- GRCh38:
- Chr16:79598964
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633344
- GRCh38:
- Chr16:79599447
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Benign
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633104
- GRCh38:
- Chr16:79599207
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633515
- GRCh38:
- Chr16:79599618
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Jul 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633003
- GRCh38:
- Chr16:79599106
| MAF | L266R | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633099-79633110
- GRCh38:
- Chr16:79599202-79599213
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Benign
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632905
- GRCh38:
- Chr16:79599008
| MAF | R299C | Cataract 21 multiple types, Ayme-Gripp syndrome | Pathogenic
(Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633098-79633099
- GRCh38:
- Chr16:79599201-79599202
| MAF | | Inborn genetic diseases, Cataract 21 multiple types, Ayme-Gripp syndrome
| Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:79633615
- GRCh38:
- Chr16:79599718
| MAF | T62M | Cataract 21 multiple types, Ayme-Gripp syndrome, Ayme-Gripp syndrome
| Likely pathogenic
(Apr 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633340
- GRCh38:
- Chr16:79599443
| MAF | G154S | Inborn genetic diseases, not provided, Cataract 21 multiple types,
Ayme-Gripp syndrome | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:79633057
- GRCh38:
- Chr16:79599160
| MAF | P248Q | Ayme-Gripp syndrome | Uncertain significance
(Jul 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79628390
- GRCh38:
- Chr16:79594493
| MAF | | not provided, Cataract 21 multiple types, Ayme-Gripp syndrome
| Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633272
- GRCh38:
- Chr16:79599375
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Jan 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633099-79633101
- GRCh38:
- Chr16:79599202-79599204
| MAF | G238del | Cataract 21 multiple types, Ayme-Gripp syndrome, not provided
| Conflicting interpretations of pathogenicity
(Jan 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:79633151
- GRCh38:
- Chr16:79599254
| MAF | G217S | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633360-79633365
- GRCh38:
- Chr16:79599463-79599468
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633740
- GRCh38:
- Chr16:79599843
| MAF | E20D | Ayme-Gripp syndrome | Uncertain significance
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632886
- GRCh38:
- Chr16:79598989
| MAF | C305Y | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632895
- GRCh38:
- Chr16:79598998
| MAF | A302D | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632884
- GRCh38:
- Chr16:79598987
| MAF | R306G | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632690
- GRCh38:
- Chr16:79598793
| MAF | E370D | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79628337-79633819
| MAF | | Ayme-Gripp syndrome, Cataract 21 multiple types | Pathogenic
(Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633104
- GRCh38:
- Chr16:79599207
| MAF | | not provided, Cataract 21 multiple types, Ayme-Gripp syndrome
| Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79632772
- GRCh38:
- Chr16:79598875
| MAF | A343V | Cataract 21 multiple types, Ayme-Gripp syndrome | Benign
(Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633347
- GRCh38:
- Chr16:79599450
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79632919
- GRCh38:
- Chr16:79599022
| MAF | R294Q | Cataract 21 multiple types, Ayme-Gripp syndrome | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78312480-80623263
- GRCh38:
- Chr16:78278583-80589366
| LOC110120569, LOC110120570, LOC111365156, DYNLRB2, LOC111365213, LOC111429607, LOC112486209, DYNLRB2-AS1, LINC01227, LINC01228, LINC01229, LOC101928230, LOC121587563, LOC121587564, LOC121587565, LOC125177356, LOC125177357, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC129390812, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, MAF, MAFTRR, WWOX | | Cataract 21 multiple types, Ayme-Gripp syndrome | Pathogenic
(Oct 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633098-79633099
- GRCh38:
- Chr16:79599201-79599202
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome, not provided
| Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79632858
- GRCh38:
- Chr16:79598961
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely benign
(Aug 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633488-79633505
- GRCh38:
- Chr16:79599591-79599608
| MAF | Q99fs | Cataract 21 multiple types, Ayme-Gripp syndrome | Pathogenic
(Jul 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633507
- GRCh38:
- Chr16:79599610
| MAF | P98Q | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79632895
- GRCh38:
- Chr16:79598998
| MAF | A302V | Cataract 21 multiple types, Ayme-Gripp syndrome | Likely pathogenic
(Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633032
- GRCh38:
- Chr16:79599135
| MAF | H256Q | Cataract 21 multiple types, Ayme-Gripp syndrome | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633085
- GRCh38:
- Chr16:79599188
| MAF | A239T | Cataract 21 multiple types, Ayme-Gripp syndrome, not provided
| Benign/Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633090-79633104
- GRCh38:
- Chr16:79599193-79599207
| MAF | | Inborn genetic diseases, Cataract 21 multiple types, Ayme-Gripp syndrome,
not provided | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:79633189
- GRCh38:
- Chr16:79599292
| MAF | G204V | Cataract 21 multiple types, Ayme-Gripp syndrome, not provided,
Inborn genetic diseases | Benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79632918
- GRCh38:
- Chr16:79599021
| MAF | | not specified, Cataract 21 multiple types, Ayme-Gripp syndrome
| Benign/Likely benign
(Jun 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633098
- GRCh38:
- Chr16:79599201
| MAF | | Cataract 21 multiple types, Ayme-Gripp syndrome, not specified,
not provided | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633806-79633808
- GRCh38:
- Chr16:79599909-79599911
| MAF | | not provided, Ayme-Gripp syndrome, not specified,
Cataract 21 multiple types | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633594
- GRCh38:
- Chr16:79599697
| MAF | P69R | not provided | Likely pathogenic
(Sep 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633615
- GRCh38:
- Chr16:79599718
| MAF | T62R | not provided | Pathogenic
(May 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:79633624
- GRCh38:
- Chr16:79599727
| MAF | P59L | Ayme-Gripp syndrome | Pathogenic
(May 7, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr16:79633624
- GRCh38:
- Chr16:79599727
| MAF | P59H | Ayme-Gripp syndrome | Pathogenic
(May 7, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr16:79633627
- GRCh38:
- Chr16:79599730
| MAF | T58I | not provided | Pathogenic
(Jan 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79633628
- GRCh38:
- Chr16:79599731
| MAF | T58A | Ayme-Gripp syndrome | Pathogenic
(May 7, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr16:79633639
- GRCh38:
- Chr16:79599742
| MAF | S54L | not provided | Pathogenic
(Mar 14, 2023) | criteria provided, single submitter |